Journal of Neurology

, Volume 248, Issue 11, pp 940–943

DYT1 mutation in primary torsion dystonia in a Serbian population

  • Tamara Major
  • Marina Svetel
  • Stanka Romac
  • Vladimir S. Kostić
Original Communication

DOI: 10.1007/s004150170045

Cite this article as:
Major, T., Svetel, M., Romac, S. et al. J Neurol (2001) 248: 940. doi:10.1007/s004150170045

Abstract

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD. We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset ± 26 years, but with at least one affected family member with early-onset dystonia. Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia. Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance.

Key words DYT1Primary torsion dystonia

Copyright information

© Steinkopff Verlag 2001

Authors and Affiliations

  • Tamara Major
    • 2
  • Marina Svetel
    • 1
  • Stanka Romac
    • 2
  • Vladimir S. Kostić
    • 1
  1. 1.Institute of Neurology CCS, Ul. Dr Subotić 6, 11 000 Belgrade, Yugoslavia, Tel.: +381-11/685554, Fax: +381-11/684577, E-mail: kostic@imi.bg.ac.yuYU
  2. 2.PCR Center, Faculty of Biology, University of Belgrade, YugoslaviaYU